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Home / Equine Research Bank / Curr Biol / A single-nucleotide mutation within the TBX3 enhancer increa...
Current biology : CB2021; 32(2); 480-487.e6; doi: 10.1016/j.cub.2021.11.052

A single-nucleotide mutation within the TBX3 enhancer increased body size in Chinese horses.

Abstract: Chinese ponies are endemic to the mountainous areas of southwestern China and were first reported in the archaeological record at the Royal Tomb of Zhongshan King, Mancheng, dated to approximately ∼2,100 YBP. Previous work has started uncovering the genetic basis of size variation in western ponies and horses, revealing a limited number of loci, including HMGA2,LCORL/NCAPG,ZFAT, and LASP1. Whether the same genetic pathways also drive the small body size of Chinese ponies, which show striking anatomical differences to Shetland ponies, remains unclear. To test this, we combined whole-genome sequences of 187 horses across China. Statistical analyses revealed top association between genetic variation at the T-box transcription factor 3 (TBX3) and the body size. Fine-scale analysis across an extended population of 189 ponies and 574 horses narrowed down the association to one A/G SNP at an enhancer region upstream of the TBX3 (ECA8:20,644,555, p = 2.34e-39). Luciferase assays confirmed the single-nucleotide G mutation upregulating TBX3 expression, and enhancer-knockout mice exhibited shorter limbs than wild-type littermates (p < 0.01). Re-analysis of ancient DNA data showed that the G allele, which is most frequent in modern horses, first occurred some ∼2,300 years ago and rose in frequency since. This supports selection for larger size in Asia from approximately the beginning of the Chinese Empire. Overall, this study characterized the causal regulatory mutation underlying small body size in Chinese ponies and revealed size as one of the main selection targets of past Chinese breeders.
Copyright © 2021 The Author(s). Published by Elsevier Inc. All rights reserved.
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Publication Date: 2021-12-13 PubMed ID: 34906355PubMed Central: PMC8796118DOI: 10.1016/j.cub.2021.11.052Google Scholar: Lookup
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Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

This research study explains how a genetic mutation in Chinese horses resulted in increased body size. This was accomplished through extensive genetic analyses of a population of Chinese horses and ponies, leading to the discovery of an area of genetic variation that influences horse size.

Background

  • Chinese ponies are native to southwestern China, first documented around 2,100 years ago. They are distinct from Shetland ponies, with unique anatomical differences.
  • Past research has uncovered some genetic sources of size variation in western ponies and horses, including several loci.
  • It was previously unclear whether the same genetic influences were responsible for the small body size of Chinese ponies.

Study Methodology

  • The study utilized whole-genome sequences of 187 horses from across China.
  • Statistical analyses were conducted, and they pointed to a genetic variation linked to the T-box transcription factor 3 (TBX3) and body size.
  • A more in-depth analysis involving 189 ponies and 574 horses narrowed the influence down to an A/G SNP at an enhancer region upstream of the TBX3.
  • Laboratory testing validated that a single-nucleotide G mutation resulted in a higher TBX3 expression.
  • Further analysis of an enhancer-knockout mice revealed shorter limbs compared to their wild-type equivalent mice, which supports the previous findings.

Historical Significance and Findings

  • Re-examination of ancient DNA evidence showed that the G allele, generally predominant in modern horses, first emerged around 2,300 years ago and its frequency has been steadily rising since then.
  • This study provides evidence for the selection of larger size in Asian horses, potentially beginning from the early Chinese Empire.
  • By determining the specific regulatory mutation responsible for smaller body size in Chinese ponies, this research also demonstrates the size selection emphasis of historical Chinese breeders.

Cite This Article

APA
Liu X, Zhang Y, Liu W, Li Y, Pan J, Pu Y, Han J, Orlando L, Ma Y, Jiang L. (2021). A single-nucleotide mutation within the TBX3 enhancer increased body size in Chinese horses. Curr Biol, 32(2), 480-487.e6. https://doi.org/10.1016/j.cub.2021.11.052

Publication

Current biology : CB
ISSN: 1879-0445
NlmUniqueID: 9107782
Country: England
Language: English
Volume: 32
Issue: 2
Pages: 480-487.e6
PII: S0960-9822(21)01611-0

Researcher Affiliations

Liu, Xuexue
  • Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS), Beijing 100193, P.R. China; Centre d'Anthropobiologie et de Génomique de Toulouse, Université Paul Sabatier, 37 allées Jules Guesde, 31000 Toulouse, France; CAAS-ILRI Joint Laboratory on Livestock and Forage Genetic Resources, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS), Beijing 100193, P.R. China.
Zhang, Yanli
  • Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS), Beijing 100193, P.R. China; CAAS-ILRI Joint Laboratory on Livestock and Forage Genetic Resources, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS), Beijing 100193, P.R. China.
Liu, Wujun
  • College of Animal Science, Xinjiang Agriculture University, Urumqi, Xinjiang, China.
Li, Yefang
  • Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS), Beijing 100193, P.R. China; CAAS-ILRI Joint Laboratory on Livestock and Forage Genetic Resources, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS), Beijing 100193, P.R. China.
Pan, Jianfei
  • Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS), Beijing 100193, P.R. China; CAAS-ILRI Joint Laboratory on Livestock and Forage Genetic Resources, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS), Beijing 100193, P.R. China.
Pu, Yabin
  • Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS), Beijing 100193, P.R. China; CAAS-ILRI Joint Laboratory on Livestock and Forage Genetic Resources, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS), Beijing 100193, P.R. China.
Han, Jianlin
  • CAAS-ILRI Joint Laboratory on Livestock and Forage Genetic Resources, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS), Beijing 100193, P.R. China; International Livestock Research Institute (ILRI), Nairobi 00100, Kenya.
Orlando, Ludovic
  • Centre d'Anthropobiologie et de Génomique de Toulouse, Université Paul Sabatier, 37 allées Jules Guesde, 31000 Toulouse, France. Electronic address: ludovic.orlando@univ-tlse3.fr.
Ma, Yuehui
  • Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS), Beijing 100193, P.R. China; CAAS-ILRI Joint Laboratory on Livestock and Forage Genetic Resources, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS), Beijing 100193, P.R. China. Electronic address: yuehui.ma@263.net.
Jiang, Lin
  • Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS), Beijing 100193, P.R. China; CAAS-ILRI Joint Laboratory on Livestock and Forage Genetic Resources, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS), Beijing 100193, P.R. China. Electronic address: jianglin@caas.cn.

MeSH Terms

  • Animals
  • Body Size / genetics
  • Genome
  • Horses / genetics
  • Mice
  • Mutation
  • Nucleotides
  • Polymorphism, Single Nucleotide
  • T-Box Domain Proteins / genetics
  • Transcription Factors / genetics

Conflict of Interest Statement

Declaration of interests The authors have a patent related to this work.

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